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A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

OBJECTIVES: New-onset refractory status epilepticus (NORSE) is associated with high morbidity and mortality. Despite extensive work-up, the underlying etiology remains unknown in 50% of affected individuals. Mitochondrial disorders represent rare causes of NORSE. Biallelic variants in FASTKD2 were r...

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Detalles Bibliográficos
Autores principales: Astner-Rohracher, Alexandra, Mauritz, Matthias, Leitinger, Markus, Rossini, Fabio, Kalss, Gudrun, Neuray, Caroline, Retter, Elisabeth, Wortmann, Saskia B., Achleitner, Melanie T., Mayr, Johannes A., Trinka, Eugen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875587/
https://www.ncbi.nlm.nih.gov/pubmed/36712458
http://dx.doi.org/10.3389/fneur.2022.1063733